ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1304A>C (p.His435Pro)

dbSNP: rs1554297915
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607664 SCV000731410 uncertain significance not specified 2017-02-26 criteria provided, single submitter clinical testing The p.His435Pro variant in PMS2 has not been previously reported in individuals with Lynch syndrome or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.His435Pro variant may not impact the protein, though this information is not predictive enough to rule out patho genicity. In summary, the clinical significance of the p.His435Pro variant is un certain.

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